The most common etiology of non- syndromic monogenic obesity are mutations in gene for the Melanocortin -4 receptor ( MC485 ) with variable prevalence in different countries (1.2 -6.3 % of obese children). The aim of our study was 1 ) to search for MC4R mutations in obese children in Slovakia and compare their prevalence with other European countries, and 2 ) to describe the phenotype of the mutation carriers. DNA analysis by direct Sanger sequencing of the coding exons and intron/exon boundaries of the MC4R gene was performed in 268 unrelated Slovak children and adolescents with body mass index above the 97 th percentile for age and sex and obesity onset up to 11 years (mean 4.3±2.8 years). Two different previously described heterozygous loss of function MC4R variants (i.e. p.Ser19Alafs*34, p.Ser127Leu) were identified in two obese probands, and one obese (p.Ser19Alafs*34), and one lean (p.Ser127Leu) adult family relatives. No loss of function variants were found in lean controls. The prevalence of loss -of-function MC4R variants in obese Slovak children was 0.7 %, what is one of the lowest frequencies in Europe., D. Stanikova, M. Surova, L. Ticha, M. Petrasova, D. Virgova, M. Huckova, M. Skopkova, D. Lobotkova, L. Valentinova, M. Mokan, J. Stanik, I. Klimes, D. Gasperikova., and Obsahuje bibliografii
Midazolam is a short acting sedative with small number of adverse effects. Administered orally, it is currently the most common form of conscious sedation in children. The objective of this paper is to describe effect of midazolam administered to children during dental treatment on their vital signs, and to monitor changes in children’s behavior. We described values of vital signs and behavior in 418 sedations conducted in 272 children between 1-12 years of age. To achieve the following results, we used data from 272 all first-time sedations. After administration of midazolam arterial blood pressure and blood oxygen saturation decreased by values which were not clinically significant. The heart rate increased, with values staying within the limits of physiological range. The speed of onset of midazolam’s clinical effects depends on age and dose. The lower age and dose correlated with the higher behavior score. The effectiveness of midazolam treatment is 97.8 %. Unwillingness of child to receive midazolam is predictor for disruptive behavior during sedation. 1.8 % of all sedation cases showed paradoxical reactions. The administration of midazolam in dose of 0.5 mg per 1 kg of child’s body weight is safe and could be recommended for dental treatment in pediatric dentistry., Jana Vasakova, Jana Duskova, Jitka Lunackova, Klara Drapalova, Lucie Zuzankova, Luboslav Starka, Michaela Duskova, Zdenek Broukal., and Obsahuje bibliografii